单基因肾结石病

Monogenic nephrolithiasis

近年来,多种单基因肾结石病被认知,单基因肾结石病可引发肾结石、肾钙质沉积、肾外脏器表现以及肾功能不全甚至肾衰竭;随着基因检测技术的进步,该类疾病的诊断也更快捷有效。同时,随着基因治疗技术的进步,基因编辑等技术将有可能改变单基因肾结石病的现有治疗方式。现就单基因肾结石病的种类、基因型和表型特征及治疗方法进行阐述。

In recent years,multiple monogenic causes of nephrolithiasis have been identified.Monogenic nephrolithiasis can lead to renal calculus,nephrocalcinosis,extrarenal manifestations,renal insufficiency and renal failure.Advances in genetic testing techniques have improved the ability to obtain a definitive diagnosis of monogenic causes of kidney stone diseases efficiently and effectively.Similarly,advances in gene therapy technologies,especially gene editing,promise to change the way to treat patients with monogenic inherited nephrolithiasis.Now,the classification,cha-racteristics of genotype and phenotype,and the treatment of monogenic causes of nephrolithiasis were reviewed.